Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models
Petrucci, Simona, Ginevrino, Monia, Valente, Enza Maria
Published in Parkinsonism & related disorders (01.01.2016)
Published in Parkinsonism & related disorders (01.01.2016)
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Journal Article
Gamma-transcranial alternating current stimulation and theta-burst stimulation: inter-subject variability and the role of BDNF
Guerra, Andrea, Asci, Francesco, Zampogna, Alessandro, D'Onofrio, Valentina, Petrucci, Simona, Ginevrino, Monia, Berardelli, Alfredo, Suppa, Antonio
Published in Clinical neurophysiology (01.11.2020)
Published in Clinical neurophysiology (01.11.2020)
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Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
Nuovo, Sara, Micalizzi, Alessia, Romaniello, Romina, Arrigoni, Filippo, Ginevrino, Monia, Casella, Antonella, Serpieri, Valentina, D'Arrigo, Stefano, Briguglio, Marilena, Salerno, Grazia Gabriella, Rossato, Sara, Sartori, Stefano, Leuzzi, Vincenzo, Battini, Roberta, Ben-Zeev, Bruria, Graziano, Claudio, Mirabelli Badenier, Marisol, Brankovic, Vesna, Nardocci, Nardo, Spiegel, Ronen, Petković Ramadža, Danijela, Vento, Giovanni, Marti, Itxaso, Simonati, Alessandro, Dipresa, Savina, Freri, Elena, Mazza, Tommaso, Bassi, Maria Teresa, Bosco, Luca, Travaglini, Lorena, Zanni, Ginevra, Bertini, Enrico Silvio, Vanacore, Nicola, Borgatti, Renato, Valente, Enza Maria
Published in Journal of medical genetics (01.04.2022)
Published in Journal of medical genetics (01.04.2022)
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Journal Article
Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report
Picillo, Marina, Scannapieco, Sara, Iavarone, Alessandro, Ginevrino, Monia, Valente, Enza Maria, Barone, Paolo
Published in BMC neurology (12.01.2021)
Published in BMC neurology (12.01.2021)
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Journal Article
Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review
Morán-Álvarez, Patricia, Gianviti, Alessandra, Diomedi-Camassei, Francesca, Ginevrino, Monia, de Benedetti, Fabrizio, Bracaglia, Claudia
Published in Pediatric Rheumatology (18.01.2024)
Published in Pediatric Rheumatology (18.01.2024)
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Journal Article
Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form
Makovac, Elena, Cercignani, Mara, Serra, Laura, Torso, Mario, Spanò, Barbara, Petrucci, Simona, Ricciardi, Lucia, Ginevrino, Monia, Caltagirone, Carlo, Bentivoglio, Anna Rita, Valente, Enza Maria, Bozzali, Marco
Published in PloS one (27.10.2016)
Published in PloS one (27.10.2016)
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Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1
Mura, Manuela, Bastaroli, Francesca, Corli, Marzia, Ginevrino, Monia, Calabrò, Federica, Boni, Marina, Crotti, Lia, Valente, Enza Maria, Schwartz, Peter J., Gnecchi, Massimiliano
Published in Stem cell research (01.01.2020)
Published in Stem cell research (01.01.2020)
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Journal Article
Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population
Mura, Manuela, Pisano, Federica, Stefanello, Manuela, Ginevrino, Monia, Boni, Marina, Calabrò, Federica, Crotti, Lia, Valente, Enza Maria, Schwartz, Peter J., Brink, Paul A., Gnecchi, Massimiliano
Published in Stem cell research (01.08.2019)
Published in Stem cell research (01.08.2019)
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Journal Article
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation
Mura, Manuela, Lee, Yee-Ki, Pisano, Federica, Ginevrino, Monia, Boni, Marina, Calabrò, Federica, Crotti, Lia, Valente, Enza Maria, Schwartz, Peter J., Tse, Hung-Fat, Gnecchi, Massimiliano
Published in Stem cell research (01.05.2019)
Published in Stem cell research (01.05.2019)
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Journal Article
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene
Mura, Manuela, Pisano, Federica, Stefanello, Manuela, Ginevrino, Monia, Boni, Marina, Calabrò, Federica, Crotti, Lia, Valente, Enza Maria, Schwartz, Peter J., Brink, Paul A., Gnecchi, Massimiliano
Published in Stem cell research (01.04.2019)
Published in Stem cell research (01.04.2019)
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Journal Article
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation
Mura, Manuela, Lee, Yee-Ki, Pisano, Federica, Ginevrino, Monia, Boni, Marina, Calabrò, Federica, Crotti, Lia, Valente, Enza Maria, Schwartz, Peter J., Tse, Hung-Fat, Gnecchi, Massimiliano
Published in Stem cell research (01.05.2019)
Published in Stem cell research (01.05.2019)
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Journal Article
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1
Mura, Manuela, Ginevrino, Monia, Zappatore, Rita, Pisano, Federica, Boni, Marina, Castelletti, Silvia, Crotti, Lia, Valente, Enza Maria, Schwartz, Peter J., Gnecchi, Massimiliano
Published in Stem cell research (01.05.2018)
Published in Stem cell research (01.05.2018)
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Journal Article
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene
Mura, Manuela, Lee, Yee-ki, Ginevrino, Monia, Zappatore, Rita, Pisano, Federica, Boni, Marina, Dagradi, Federica, Crotti, Lia, Valente, Enza Maria, Schwartz, Peter J., Tse, Hung-Fat, Gnecchi, Massimiliano
Published in Stem cell research (01.05.2018)
Published in Stem cell research (01.05.2018)
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Journal Article
GBA‐Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort
Petrucci, Simona, Ginevrino, Monia, Trezzi, Ilaria, Monfrini, Edoardo, Ricciardi, Lucia, Albanese, Alberto, Avenali, Micol, Barone, Paolo, Bentivoglio, Anna Rita, Bonifati, Vincenzo, Bove, Francesco, Bonanni, Laura, Brusa, Livia, Cereda, Cristina, Cossu, Giovanni, Criscuolo, Chiara, Dati, Giovanna, De Rosa, Anna, Eleopra, Roberto, Fabbrini, Giovanni, Fadda, Laura, Garbellini, Manuela, Minafra, Brigida, Onofrj, Marco, Pacchetti, Claudio, Palmieri, Ilaria, Pellecchia, Maria Teresa, Petracca, Martina, Picillo, Marina, Pisani, Antonio, Vallelunga, Annamaria, Zangaglia, Roberta, Di Fonzo, Alessio, Morgante, Francesca, Valente, Enza Maria, Altavista, Maria Concetta, Amboni, Marianna, Ardolino, Gianluca, Berardelli, Alfredo, Cogiamanian, Filippo, Colosimo, Carlo, Costanti, Danilo, De Michele, Giuseppe, Bonaventura, Carlo Di, Di Lazzaro, Giulia, Di Lazzaro, Vincenzo, Emanuele Elia, Antonio, Erro, Roberto, Ferrazzano, Gina, Guerra, Andrea, Ialongo, Tamara, Malaguti, Maria Chiara, Melis, Marta, Moro, Elena, Oppo, Valentina, Ottaviani, Donatella, Peluso, Silvio, Quadri, Maria Luisa, Romito, Luigi Michele, Sarchioto, Marianna, Schirinzi, Tommaso, Sorbera, Chiara, Stefani, Alessandro, Thomas, Astrid, Valente, Maria Luisa, Volpe, Giampiero
Published in Movement disorders (01.11.2020)
Published in Movement disorders (01.11.2020)
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Impulsive-compulsive behaviors in parkin-associated Parkinson disease
Morgante, Francesca, Fasano, Alfonso, Ginevrino, Monia, Petrucci, Simona, Ricciardi, Lucia, Bove, Francesco, Criscuolo, Chiara, Moccia, Marcello, De Rosa, Anna, Sorbera, Chiara, Bentivoglio, Anna Rita, Barone, Paolo, De Michele, Giuseppe, Pellecchia, Maria Teresa, Valente, Enza Maria
Published in Neurology (04.10.2016)
Published in Neurology (04.10.2016)
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Age and sex prevalence estimate of Joubert syndrome in Italy
Nuovo, Sara, Bacigalupo, Ilaria, Ginevrino, Monia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Casella, Antonella, Micalizzi, Alessia, Nardella, Marta, Romaniello, Romina, Serpieri, Valentina, Zanni, Ginevra, Valente, Enza Maria, Vanacore, Nicola
Published in Neurology (25.02.2020)
Published in Neurology (25.02.2020)
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Journal Article
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
Nicita, Francesco, Ginevrino, Monia, Travaglini, Lorena, D'Arrigo, Stefano, Zorzi, Giovanna, Borgatti, Renato, Terrone, Gaetano, Catteruccia, Michela, Vasco, Gessica, Brankovic, Vesna, Siliquini, Sabrina, Romano, Silvia, Veredice, Chiara, Pedemonte, Marina, Armando, Michelina, Lettori, Donatella, Stregapede, Fabrizia, Bosco, Luca, Sferra, Antonella, Tessarollo, Valeria, Romaniello, Romina, Ristori, Giovanni, Bertini, Enrico, Valente, Enza Maria, Zanni, Ginevra
Published in Journal of medical genetics (01.07.2021)
Published in Journal of medical genetics (01.07.2021)
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A novel IRF2BPL truncating variant is associated with endolysosomal storage
Ginevrino, Monia, Battini, Roberta, Nuovo, Sara, Simonati, Alessandro, Micalizzi, Alessia, Contaldo, Ilaria, Serpieri, Valentina, Valente, Enza Maria
Published in Molecular biology reports (2020)
Published in Molecular biology reports (2020)
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Journal Article
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype
Nuovo, Sara, Micalizzi, Alessia, D'Arrigo, Stefano, Ginevrino, Monia, Biagini, Tommaso, Mazza, Tommaso, Valente, Enza Maria
Published in European journal of human genetics : EJHG (01.07.2018)
Published in European journal of human genetics : EJHG (01.07.2018)
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